{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T17:33:19Z","timestamp":1781717599141,"version":"3.54.5"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,12,14]],"date-time":"2023-12-14T00:00:00Z","timestamp":1702512000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007543","name":"Grantov\u00e1 Agentura, Univerzita Karlova","doi-asserted-by":"publisher","award":["94121"],"award-info":[{"award-number":["94121"]}],"id":[{"id":"10.13039\/100007543","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001823","name":"Ministerstvo \u0160kolstv\u00ed, Ml\u00e1de\u017ee a T\u011blov\u00fdchovy","doi-asserted-by":"publisher","award":["LX22NPO5107"],"award-info":[{"award-number":["LX22NPO5107"]}],"id":[{"id":"10.13039\/501100001823","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["00064203"],"award-info":[{"award-number":["00064203"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["NV19\u201004\u201000369"],"award-info":[{"award-number":["NV19\u201004\u201000369"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Focal cortical dysplasia (FCD) represents the most common cause of drug\u2010resistant epilepsy in adult and pediatric surgical series. However, genetic factors contributing to severe phenotypes of FCD remain unknown. We present a patient with an exceptionally rapid development of drug\u2010resistant epilepsy evolving in super\u2010refractory status epilepticus. We performed multiple clinical (serial EEG, MRI), biochemical (metabolic and immunological screening), genetic (WES from blood\u2010 and brain\u2010derived DNA), and histopathological investigations. The patient presented 1\u2009month after an uncomplicated varicella infection. MRI was negative, as well as other biochemical and immunological examinations. Whole\u2010exome sequencing of blood\u2010derived DNA detected a heterozygous paternally inherited variant NM_006267.4(RANBP2):c.5233A&gt;G p.(Ile1745Val) (Chr2[GRCh37]:g.109382228A&gt;G), a gene associated with a susceptibility to infection\u2010induced acute necrotizing encephalopathy. No combination of anti\u2010seizure medication led to a sustained seizure freedom and the patient warranted induction of propofol anesthesia with high\u2010dose intravenous midazolam and continuous respiratory support that however failed to abort seizure activity. Brain biopsy revealed FCD type IIa; this finding led to the indication of an emergency right\u2010sided hemispherotomy that rendered the patient temporarily seizure\u2010free. Postsurgically, he remains on antiseizure medication and experiences rare nondisabling seizures. This report highlights a uniquely severe clinical course of FCD putatively modified by the <jats:italic>RANBP2<\/jats:italic> variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Plain Language Summary<\/jats:title><jats:p>We report a case summary of a patient who came to our attention for epilepsy that could not be controlled with medication. His clinical course progressed rapidly to life\u2010threatening status epilepticus with other unusual neurological findings. Therefore, we decided to surgically remove a piece of brain tissue in order to clarify the diagnosis that showed features of a structural brain abnormality associated with severe epilepsy, the focal cortical dysplasia. Later, a genetic variant in a gene associated with another condition, was found, and we hypothesize that this genetic variant could have contributed to this severe clinical course of our patient.<\/jats:p><\/jats:sec>","DOI":"10.1002\/epi4.12863","type":"journal-article","created":{"date-parts":[[2023,11,9]],"date-time":"2023-11-09T14:38:55Z","timestamp":1699540735000},"page":"424-431","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A 5\u2010year\u2010old boy with super\u2010refractory status epilepticus and <scp><i>RANBP2<\/i><\/scp> variant warranting life\u2010saving hemispherotomy"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8448-2833","authenticated-orcid":false,"given":"Barbora","family":"Straka","sequence":"first","affiliation":[{"name":"Department of Paediatric Neurology Motol University Hospital and Second Faculty of Medicine, Charles University  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miroslav","family":"Kobl\u00ed\u017eek","sequence":"additional","affiliation":[{"name":"Department of Pathology and Molecular Medicine Motol University Hospital and Second Faculty of Medicine, Charles University  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbora","family":"Spl\u00edtkov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Motol University Hospital and Second Faculty of Medicine, Charles University  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radka","family":"Valkovi\u010dov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Motol University Hospital and Second Faculty of Medicine, Charles University  Prague Czech 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Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josef","family":"Z\u00e1me\u010dn\u00edk","sequence":"additional","affiliation":[{"name":"Department of Pathology and Molecular Medicine Motol University Hospital and Second Faculty of Medicine, Charles University  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1726-5868","authenticated-orcid":false,"given":"Petra","family":"La\u0161\u0161uthov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Motol University Hospital and Second Faculty of Medicine, Charles University  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2551-4764","authenticated-orcid":false,"given":"Lucie","family":"Sedl\u00e1\u010dkov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Motol University Hospital and Second Faculty of Medicine, Charles University  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Stan\u011bk","sequence":"additional","affiliation":[{"name":"Second Faculty of Medicine, Charles University  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Maulisov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Clinical Psychology Motol University Hospital and Second Faculty of Medicine, Charles University  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michal","family":"Tich\u00fd","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Motol University Hospital and Second Faculty of Medicine, Charles University  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Kyn\u010dl","sequence":"additional","affiliation":[{"name":"Department of Radiology Motol University 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